A CASE REPORT OF FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS WITH CNS DEMYELINATION COMPLICATED WITH THROMBOSIS
(Abstract release date: 05/19/16)
EHA Library. Unal E. 06/09/16; 135111; PB2211
Dr. Ekrem Unal
Contributions
Contributions
Abstract
Abstract: PB2211
Type: Publication Only
Background
Hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children, including high fever, hepatosplenomegaly and pancytopenia. Hemophagocytic syndrome may be spontaneous or secondary to infection, malignancy or autoimmune disease, and mechanisms involved are poorly understood. The main histopathologic feature is increased proliferation and activation of macrophages with hemophagocytic lymphohistiocytosis throughout the reticuloendothelial system.
Aims
We present a case with cranial involvement of HLH showing diffuse infiltration of white matter complicated with intracranial thrombosis.
Methods
A 5 year-old girl with fever, and pancytopenia was referred to our hematology unit. Also she had a history of recurrent infections. Her parents were consanguine. Lymphadenopathy, and hepatosplenomegaly were detected in physical examination. Ultrasound examination displayed hepatosplenomegaly and intraabdominal free fluid. Hemophagocytic lymphohistiocytosis was revealed on bone marrow aspiration biopsy. Anomaly in NK and T lymphocyte cytotoxicity and degranulation tests was determined. İn genetic analysis, syntaxin gene mutation was depicted. Immunosuppressive therapy was performed to the patient, diagnosed with familial HLH. Brain MR imaging was performed because of the suspicion of cranial involvement. On MRI diffuse hyperintense signal changes of cerebral white matter on T2-W and T2 FLAIR images, showing demiyelination were detected. There wasn't any mass effect, contrast enhancement and restricted diffusion on MRI. A repeated brain MR performed a month after the first cranial imaging, showed an acute infarct involving left temporooccipital region. Follow up images showed that the infarct was disappeared but white matter lesions was stable on the brain MR imagines. The cerebral white matter lesions were stable but hyperintense signal changes were appeared in cerebellar white matter, accepted as progression. She was died in despite of immunosuppressive therapy.
Results
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, in association with a variety of triggers and is prominently associated with cytopenias and combination of clinical signs and symptoms of extreme inflammation. The histopathologic findings of HLH in pediatric patients with cranial involvement is various. The common CNS involvement of HLH is leptomeningeal infiltration of lymphocytes and histiocytes/macrophages with a sterile CSF lymphocytosis. If parenchymal involvement occurs perivascular infiltrations are seen. In more severe cases, demiyelination and tissue necrosis of the cerebral white matter may be seen. The previously reported MR findings of HLH with cranial involvement, include diffuse leptomeningeal and perivascular enhancement showing infiltrations of histiocytes and lymphocytes, T2W hyperintense white matter lesions on cerebrum, cerebellum and spine, parenchymal necrotic lesions with ring enhancement and diffuse atrophy of the cerebrum and cerebellum. In our patient we displayed diffuse white matter lesions in cerebrum and cerebellum showing demiyelination on T2W MR sequences. There wasn't any contrast enhancement or restricted diffusion. The spine was normal.
Conclusion
The HLH treatment is an induction therapy including steroid amd chemotheuropetics. Without therapy, survival of patients with HLH is very short, especially in familial form and cranial involvement. CNS involvement may occur at the beginning or during the treatment. Patients with CNS involvement should be treated with intrathecal agents. Depiction of the cranial involvement, is important for patient's survival and treatment. All patients with HLH should had brain MRI, even if asymptomatic.
Session topic: E-poster
Keyword(s): Children, Stroke
Type: Publication Only
Background
Hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children, including high fever, hepatosplenomegaly and pancytopenia. Hemophagocytic syndrome may be spontaneous or secondary to infection, malignancy or autoimmune disease, and mechanisms involved are poorly understood. The main histopathologic feature is increased proliferation and activation of macrophages with hemophagocytic lymphohistiocytosis throughout the reticuloendothelial system.
Aims
We present a case with cranial involvement of HLH showing diffuse infiltration of white matter complicated with intracranial thrombosis.
Methods
A 5 year-old girl with fever, and pancytopenia was referred to our hematology unit. Also she had a history of recurrent infections. Her parents were consanguine. Lymphadenopathy, and hepatosplenomegaly were detected in physical examination. Ultrasound examination displayed hepatosplenomegaly and intraabdominal free fluid. Hemophagocytic lymphohistiocytosis was revealed on bone marrow aspiration biopsy. Anomaly in NK and T lymphocyte cytotoxicity and degranulation tests was determined. İn genetic analysis, syntaxin gene mutation was depicted. Immunosuppressive therapy was performed to the patient, diagnosed with familial HLH. Brain MR imaging was performed because of the suspicion of cranial involvement. On MRI diffuse hyperintense signal changes of cerebral white matter on T2-W and T2 FLAIR images, showing demiyelination were detected. There wasn't any mass effect, contrast enhancement and restricted diffusion on MRI. A repeated brain MR performed a month after the first cranial imaging, showed an acute infarct involving left temporooccipital region. Follow up images showed that the infarct was disappeared but white matter lesions was stable on the brain MR imagines. The cerebral white matter lesions were stable but hyperintense signal changes were appeared in cerebellar white matter, accepted as progression. She was died in despite of immunosuppressive therapy.
Results
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, in association with a variety of triggers and is prominently associated with cytopenias and combination of clinical signs and symptoms of extreme inflammation. The histopathologic findings of HLH in pediatric patients with cranial involvement is various. The common CNS involvement of HLH is leptomeningeal infiltration of lymphocytes and histiocytes/macrophages with a sterile CSF lymphocytosis. If parenchymal involvement occurs perivascular infiltrations are seen. In more severe cases, demiyelination and tissue necrosis of the cerebral white matter may be seen. The previously reported MR findings of HLH with cranial involvement, include diffuse leptomeningeal and perivascular enhancement showing infiltrations of histiocytes and lymphocytes, T2W hyperintense white matter lesions on cerebrum, cerebellum and spine, parenchymal necrotic lesions with ring enhancement and diffuse atrophy of the cerebrum and cerebellum. In our patient we displayed diffuse white matter lesions in cerebrum and cerebellum showing demiyelination on T2W MR sequences. There wasn't any contrast enhancement or restricted diffusion. The spine was normal.
Conclusion
The HLH treatment is an induction therapy including steroid amd chemotheuropetics. Without therapy, survival of patients with HLH is very short, especially in familial form and cranial involvement. CNS involvement may occur at the beginning or during the treatment. Patients with CNS involvement should be treated with intrathecal agents. Depiction of the cranial involvement, is important for patient's survival and treatment. All patients with HLH should had brain MRI, even if asymptomatic.
Session topic: E-poster
Keyword(s): Children, Stroke
Abstract: PB2211
Type: Publication Only
Background
Hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children, including high fever, hepatosplenomegaly and pancytopenia. Hemophagocytic syndrome may be spontaneous or secondary to infection, malignancy or autoimmune disease, and mechanisms involved are poorly understood. The main histopathologic feature is increased proliferation and activation of macrophages with hemophagocytic lymphohistiocytosis throughout the reticuloendothelial system.
Aims
We present a case with cranial involvement of HLH showing diffuse infiltration of white matter complicated with intracranial thrombosis.
Methods
A 5 year-old girl with fever, and pancytopenia was referred to our hematology unit. Also she had a history of recurrent infections. Her parents were consanguine. Lymphadenopathy, and hepatosplenomegaly were detected in physical examination. Ultrasound examination displayed hepatosplenomegaly and intraabdominal free fluid. Hemophagocytic lymphohistiocytosis was revealed on bone marrow aspiration biopsy. Anomaly in NK and T lymphocyte cytotoxicity and degranulation tests was determined. İn genetic analysis, syntaxin gene mutation was depicted. Immunosuppressive therapy was performed to the patient, diagnosed with familial HLH. Brain MR imaging was performed because of the suspicion of cranial involvement. On MRI diffuse hyperintense signal changes of cerebral white matter on T2-W and T2 FLAIR images, showing demiyelination were detected. There wasn't any mass effect, contrast enhancement and restricted diffusion on MRI. A repeated brain MR performed a month after the first cranial imaging, showed an acute infarct involving left temporooccipital region. Follow up images showed that the infarct was disappeared but white matter lesions was stable on the brain MR imagines. The cerebral white matter lesions were stable but hyperintense signal changes were appeared in cerebellar white matter, accepted as progression. She was died in despite of immunosuppressive therapy.
Results
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, in association with a variety of triggers and is prominently associated with cytopenias and combination of clinical signs and symptoms of extreme inflammation. The histopathologic findings of HLH in pediatric patients with cranial involvement is various. The common CNS involvement of HLH is leptomeningeal infiltration of lymphocytes and histiocytes/macrophages with a sterile CSF lymphocytosis. If parenchymal involvement occurs perivascular infiltrations are seen. In more severe cases, demiyelination and tissue necrosis of the cerebral white matter may be seen. The previously reported MR findings of HLH with cranial involvement, include diffuse leptomeningeal and perivascular enhancement showing infiltrations of histiocytes and lymphocytes, T2W hyperintense white matter lesions on cerebrum, cerebellum and spine, parenchymal necrotic lesions with ring enhancement and diffuse atrophy of the cerebrum and cerebellum. In our patient we displayed diffuse white matter lesions in cerebrum and cerebellum showing demiyelination on T2W MR sequences. There wasn't any contrast enhancement or restricted diffusion. The spine was normal.
Conclusion
The HLH treatment is an induction therapy including steroid amd chemotheuropetics. Without therapy, survival of patients with HLH is very short, especially in familial form and cranial involvement. CNS involvement may occur at the beginning or during the treatment. Patients with CNS involvement should be treated with intrathecal agents. Depiction of the cranial involvement, is important for patient's survival and treatment. All patients with HLH should had brain MRI, even if asymptomatic.
Session topic: E-poster
Keyword(s): Children, Stroke
Type: Publication Only
Background
Hemophagocytic lymphohistiocytosis (HLH) is a fatal disease affecting infants and very young children, including high fever, hepatosplenomegaly and pancytopenia. Hemophagocytic syndrome may be spontaneous or secondary to infection, malignancy or autoimmune disease, and mechanisms involved are poorly understood. The main histopathologic feature is increased proliferation and activation of macrophages with hemophagocytic lymphohistiocytosis throughout the reticuloendothelial system.
Aims
We present a case with cranial involvement of HLH showing diffuse infiltration of white matter complicated with intracranial thrombosis.
Methods
A 5 year-old girl with fever, and pancytopenia was referred to our hematology unit. Also she had a history of recurrent infections. Her parents were consanguine. Lymphadenopathy, and hepatosplenomegaly were detected in physical examination. Ultrasound examination displayed hepatosplenomegaly and intraabdominal free fluid. Hemophagocytic lymphohistiocytosis was revealed on bone marrow aspiration biopsy. Anomaly in NK and T lymphocyte cytotoxicity and degranulation tests was determined. İn genetic analysis, syntaxin gene mutation was depicted. Immunosuppressive therapy was performed to the patient, diagnosed with familial HLH. Brain MR imaging was performed because of the suspicion of cranial involvement. On MRI diffuse hyperintense signal changes of cerebral white matter on T2-W and T2 FLAIR images, showing demiyelination were detected. There wasn't any mass effect, contrast enhancement and restricted diffusion on MRI. A repeated brain MR performed a month after the first cranial imaging, showed an acute infarct involving left temporooccipital region. Follow up images showed that the infarct was disappeared but white matter lesions was stable on the brain MR imagines. The cerebral white matter lesions were stable but hyperintense signal changes were appeared in cerebellar white matter, accepted as progression. She was died in despite of immunosuppressive therapy.
Results
Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation, in association with a variety of triggers and is prominently associated with cytopenias and combination of clinical signs and symptoms of extreme inflammation. The histopathologic findings of HLH in pediatric patients with cranial involvement is various. The common CNS involvement of HLH is leptomeningeal infiltration of lymphocytes and histiocytes/macrophages with a sterile CSF lymphocytosis. If parenchymal involvement occurs perivascular infiltrations are seen. In more severe cases, demiyelination and tissue necrosis of the cerebral white matter may be seen. The previously reported MR findings of HLH with cranial involvement, include diffuse leptomeningeal and perivascular enhancement showing infiltrations of histiocytes and lymphocytes, T2W hyperintense white matter lesions on cerebrum, cerebellum and spine, parenchymal necrotic lesions with ring enhancement and diffuse atrophy of the cerebrum and cerebellum. In our patient we displayed diffuse white matter lesions in cerebrum and cerebellum showing demiyelination on T2W MR sequences. There wasn't any contrast enhancement or restricted diffusion. The spine was normal.
Conclusion
The HLH treatment is an induction therapy including steroid amd chemotheuropetics. Without therapy, survival of patients with HLH is very short, especially in familial form and cranial involvement. CNS involvement may occur at the beginning or during the treatment. Patients with CNS involvement should be treated with intrathecal agents. Depiction of the cranial involvement, is important for patient's survival and treatment. All patients with HLH should had brain MRI, even if asymptomatic.
Session topic: E-poster
Keyword(s): Children, Stroke
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